Gene · 3425
Papers1,870
Newest first. Swiss-Prot's references are curated; PubTator's text mining finds papers that name the gene, not always ones about it.
1 to 20 of 1,870
Download this page as JSON| Title | Journal | Year | PMID | Found by | Source |
|---|---|---|---|---|---|
| Unmasking Mucopolysaccharidosis Type I in a Patient With Wolf-Hirschhorn Syndrome: Diagnostic Overshadowing. | JIMD Rep | 2026 | 42707122 | PubTator, text mining | PubMed |
| Early detection in action: developing and refining newborn screening for Pompe disease in North Carolina. | Mol Genet Metab | 2026 | 42691781 | PubTator, text mining | PubMed |
| Multiplex MSMS measurement of lysosomal enzymes enables incidental diagnosis of acid sphingomyelinase deficiency in patients evaluated for Gaucher disease. | Mol Genet Metab | 2026 | 42641356 | PubTator, text mining | PubMed |
| First bone marrow transplantation for mucopolysaccharidosis type I in Vietnam: a case report. | Ther Adv Rare Dis | 2026 | 42553443 | PubTator, text mining | PubMed |
| Proteome-Wide Mendelian Randomization Identifies Causal Proteins for Multiple Sclerosis Susceptibility and Severity. | Genes (Basel) | 2026 | 42510850 | PubTator, text mining | PubMed |
| Identification of genetic variants associated with idiopathic inflammatory myopathies via cross-trait analysis with B cell lymphomas. | HGG Adv | 2026 | 42499187 | PubTator, text mining | PubMed |
| Oral nanoparticle-encapsulated enzyme replacement therapy for mucopolysaccharidosis type I (MPS-I): a proof of concept study. | Drug Deliv Transl Res | 2026 | 42323476 | PubTator, text mining | PubMed |
| Searching for New Genes That Cause Usher Syndrome. | Am J Ophthalmol | 2026 | 42309414 | PubTator, text mining | PubMed |
| Mucopolysaccharidosis type I with retinal degeneration and absence of corneal involvement in the eighth decade of life. | Ophthalmic Genet | 2026 | 42246377 | PubTator, text mining | PubMed |
| Variant classification for mucopolysaccharidosis type I; ACMG/AMP specification for IDUA from the ClinGen lysosomal diseases variant curation expert panel. | Mol Genet Metab | 2026 | 42190545 | PubTator, text mining | PubMed |
| RNA activation as a precision dosing modality: MTL-CEBPA for controlled enzyme elevation in MPS I-H. | Front Med (Lausanne) | 2026 | 42180769 | PubTator, text mining | PubMed |
| Homozygous R383H variant in IDUA gene causing pericentric retinitis pigmentosa in attenuated mucopolysaccharidosis type I. | Ophthalmic Genet | 2026 | 42161901 | PubTator, text mining | PubMed |
| CSF GAG non-reducing ends in MPS IH after peripheral and brain-penetrating therapies: A model comparing IV non-targeted ERT and HCT. | Mol Ther Adv | 2026 | 42137289 | PubTator, text mining | PubMed |
| Delayed diagnosis of mucopolysaccharidosis type I in a patient with spinopelvic instability, short stature, and skeletal dysplasia. | JBMR Plus | 2026 | 42110969 | PubTator, text mining | PubMed |
| Plasma proteomics of APOE genotype: age-specific analyses in UK population-based cohorts. | medRxiv | 2026 | 42064934 | PubTator, text mining | PubMed |
| Real-World Outcomes of FLAG-Ida Regimen in 1079 Adult Patients With First Relapsed/Refractory AML: A PETHEMA Study. | Am J Hematol | 2026 | 42017547 | PubTator, text mining | PubMed |
| Identification of 19 Pathogenic Variants in a Clinically Heterogeneous Cohort With Suspected Inborn Errors of Metabolism. | Clin Genet | 2026 | 41968882 | PubTator, text mining | PubMed |
| The HAESA family of receptor-like kinases: abscission pathways and emerging functions. | Front Plant Sci | 2026 | 41959585 | PubTator, text mining | PubMed |
| Integrative Multi-Omics Mendelian Randomization Highlights Causal Autophagy-Related Genes for Amyotrophic Lateral Sclerosis. | Brain Behav | 2026 | 41917768 | PubTator, text mining | PubMed |
| Loss-of-function variants in ODAD1 disrupt ODA docking and induce actin cytoskeletal remodeling in primary ciliary dyskinesia. | Cell Discov | 2026 | 41916967 | PubTator, text mining | PubMed |
gene-search-2026-11-11-0.2.0
Sources 12
- ClinicalTrials.gov's posted results, through CTTI's AACTFreely available. Acknowledgement requested
- ChEMBL, through Open TargetsCC BY-SA 3.0
- ClinicalTrials.govNo license stated
- EMBL-EBI's patent proteinsNo added restrictions. Attribution expected
- GenBank's patent filesNo restrictions from NCBI. Submitters may hold rights
- HGNCCC0
- NCBI GenePublic domain (US government)
- NIH's project files and grant-paper linksPublic domain
- Open TargetsCC0 1.0
- PubMedNLM's terms
- PubTator 3Public domain
- UniProtCC BY 4.0
Each source's terms
- ClinicalTrials.gov's posted results, through CTTI's AACTClinicalTrials.gov data via Aggregate Analysis of ClinicalTrials.gov (AACT), CTTI. CTTI makes its materials freely available and requests acknowledgement. https://aact.ctti-clinicaltrials.org/documentation/299
- ChEMBL, through Open TargetsCC BY-SA 3.0, for the parts from ChEMBL. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
- ClinicalTrials.govnone stated
- EMBL-EBI's patent proteinsEMBL-EBI's patent protein files from the EPO, JPO, KIPO and USPTO. EMBL-EBI: "EMBL-EBI itself places no additional restrictions on the use or redistribution of the data available via its Data Resources and Tools other than those provided by the original data owners" and "EMBL-EBI expects attribution (e.g. in publications, services or products) for the use of any of its Data Resources and Tools." Read on 11 Nov 2026 at https://www.ebi.ac.uk/about/terms-of-use
- GenBank's patent filesGenBank's patent files. NCBI: "NCBI places no restrictions on the use or distribution of the GenBank data. However, some submitters may claim patent, copyright, or other intellectual property rights in all or a portion of the data they have submitted." Read on 11 Nov 2026 at https://www.ncbi.nlm.nih.gov/genbank/about/
- HGNCCC0: https://www.genenames.org/about/license/
- NCBI GeneNone named for the file. NCBI says information created by or for the US government on its site is in the public domain, and asks that NLM be acknowledged: https://www.ncbi.nlm.nih.gov/home/about/policies/
- NIH's project files and grant-paper linksPublic domain (NIH RePORTER)
- Open TargetsCC0 1.0. Open Targets asks that users cite its latest paper: Buniello et al. 2025, Open Targets Platform: facilitating therapeutic hypotheses building in drug discovery, Nucleic Acids Research 53(D1):D1467, PMID 39657122. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
- PubMedNLM's terms
- PubTator 3Public domain
- UniProtCC BY 4.0. UniProt's licence file: "All databases and documents in the UniProt FTP directory may be copied and redistributed freely, without advance permission, provided that this copyright statement is reproduced with each copy." UniProt asks that users cite its latest paper: The UniProt Consortium, UniProt: the Universal Protein Knowledgebase in 2025, Nucleic Acids Research 53:D609-D617, https://doi.org/10.1093/nar/gkae1010. Read on 9 Nov 2026 at https://www.uniprot.org/help/license
ClinicalTrials.gov's data carry an international copyright outside the United States: https://clinicaltrials.gov/about-site/terms-conditions.
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